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. 2017 Jan 26;100(2):257–266. doi: 10.1016/j.ajhg.2017.01.002

Figure 2.

Figure 2

DNAJC12 Expression Studies

(A) DNAJC12 mRNA expression in fibroblasts, measured by quantitative real-time polymerase chain reaction (qPCR) and standardized against GAPDH. The graph shows the normalized relative DNAJC12 mRNA levels in two affected individuals (B-IV-1 and B-IV-2) and three unaffected age-matched healthy control individuals.

(B and C) Representative western blot (B) and densitometric quantification (C, left) of the DNAJC12 protein levels in fibroblasts from three unaffected age-matched healthy control individuals (C1–C3), in fibroblasts from the heterozygous unaffected father of B-IV-1 and B-IV-2 (Het), and in fibroblasts with the homozygous missense variant (c.215G>C, C-II-4), the homozygous del6943 (A-IV-2), and the homozygous canonical splice variant (c.158−2A>T, B-IV-1 and B-IV-2). Densitometric analysis of DNAJC12 protein (C, right) was performed in fibroblasts from individual C-II-4 (n = 3) and in fibroblasts from three unaffected age-matched healthy control individuals (n = 3). DNAJC12 level was normalized to β-actin. Results are presented as means ± SEM; ∗p < 0.05.